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Genome-wide tandem repeat expansions modify schizophrenia risk in the presence of a 22q11.2 deletion
(Springer Science and Business Media LLC, 2026-04-15)
Muyang Cheng
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Yue Yin
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Worrawat Engchuan
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Tracy Heung
;
Kathleen Angkustsiri
1
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Prevalence of Parkinson's Disease in 22q11.2 Deletion Syndrome: A Multicenter Study
(Wiley, 2025-02-07)
Emma N.M.M. von Scheibler
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Ann Swillen
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REPETTO LISBOA, MARIA GABRIELA
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Nikolai Gil D. Reyes
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Anthony E. Lang
Background deletion syndrome (22q11.2DS) has been associated with increased risk of early‐onset Parkinson's disease (PD).</jats:p></jats:sec><jats:sec><jats:title>Objective</jats:title><jats:p>To determine the prevalence and predictors of PD in a large international 22q11.2DS sample.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>The sample comprised 856 adults (median age 28 (range 16–76) years; 53.0% female). PD was defined as clinical diagnosis by a neurologist (including bradykinesia, rest tremor and/or rigidity). Age‐specific risk and predictors of PD were analyzed using Kaplan–Meier curve and Cox regression.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>PD was present in 1.8% (95% CI: 0.9–2.6%) of the sample, 3.4% (95% CI: 2.2–4.6%) when including uncertain PD (clinical diagnosis or suspicion, but not meeting all criteria), and 14.0% (95% CI: 6.9–21.0%) of those aged ≥50 years. Median age at motor onset was 45 (range 20–66) years. None of the factors considered were associated with PD.</jats:p></jats:sec><jats:sec><jats:title>Conclusions</jats:title><jats:p>Given high PD prevalence and young onset, we propose periodic motor evaluations from age 40 years in 22q11.2DS
1
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Source‐based morphometry reveals structural brain pattern abnormalities in 22q11.2 deletion syndrome
(2024)
Ruiyang Ge
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Christopher R. K. Ching
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Anne S. Bassett
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Leila Kushan
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Kevin M. Antshel
<jats:title>Abstract</jats:title><jats:p>22q11.2 deletion syndrome (22q11DS) is the most frequently occurring microdeletion in humans. It is associated with a significant impact on brain structure, including prominent reductions in gray matter volume (GMV), and neuropsychiatric manifestations, including cognitive impairment and psychosis. It is unclear whether GMV alterations in 22q11DS occur according to distinct structural patterns. Then, 783 participants (470 with 22q11DS: 51% females, mean age [SD] 18.2 [9.2]; and 313 typically developing [TD] controls: 46% females, mean age 18.0 [8.6]) from 13 datasets were included in the present study. We segmented structural T1‐weighted brain MRI scans and extracted GMV images, which were then utilized in a novel source‐based morphometry (SBM) pipeline (SS‐Detect) to generate structural brain patterns (SBPs) that capture co‐varying GMV. We investigated the impact of the 22q11.2 deletion, deletion size, intelligence quotient, and psychosis on the SBPs. Seventeen GMV‐SBPs were derived, which provided spatial patterns of GMV covariance associated with a quantitative metric (i.e., loading score) for analysis. Patterns of topographically widespread differences in GMV covariance, including the cerebellum, discriminated individuals with 22q11DS from healthy controls. The spatial extents of the SBPs that revealed disparities between individuals with 22q11DS and controls were consistent with the findings of the univariate voxel‐based morphometry analysis. Larger deletion size was associated with significantly lower GMV in frontal and occipital SBPs; however, history of psychosis did not show a strong relationship with these covariance patterns. 22q11DS is associated with distinct structural abnormalities captured by topographical GMV covariance patterns that include the cerebellum. Findings indicate that structural anomalies in 22q11DS manifest in a nonrandom manner and in distinct covarying anatomical patterns, rather than a diffuse global process. These SBP abnormalities converge with previously reported cortical surface area abnormalities, suggesting disturbances of early neurodevelopment as the most likely underlying mechanism.</jats:p>
3Scopus© Citations 6
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Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age
(2023)
Lindsay R. Freud
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Stephanie Galloway
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T. Blaine Crowley
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Julie Moldenhauer
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Ann Swillen
1Scopus© Citations 9
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Gathering the Stakeholder’s Perspective: Experiences and Opportunities in Rare Genetic Disease Research
(2023)
Lauren K. White
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T. Blaine Crowley
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Brenda Finucane
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Emily J. McClellan
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Sarah Donoghue
<jats:p>Background: Research participant feedback is rarely collected; therefore, investigators have limited understanding regarding stakeholders’ (affected individuals/caregivers) motivation to participate. Members of the Genes to Mental Health Network (G2MH) surveyed stakeholders affected by copy number variants (CNVs) regarding perceived incentives for study participation, opinions concerning research priorities, and the necessity for future funding. Respondents were also asked about feelings of preparedness, research burden, and satisfaction with research study participation. Methods: Modified validated surveys were used to assess stakeholders´ views across three domains: (1) Research Study Enrollment, Retainment, Withdrawal, and Future Participation; (2) Overall Research Experience, Burden, and Preparedness; (3) Research Priorities and Obstacles. Top box score analyses were performed. Results: A total of 704 stakeholders´ responded from 29 countries representing 55 CNVs. The top reasons for initial participation in the research included reasons related to education and altruism. The top reasons for leaving a research study included treatment risks and side effects. The importance of sharing research findings and laboratory results with stakeholders was underscored by participants. Most stakeholders reported positive research experiences. Conclusions: This study provides important insight into how individuals and families affected with a rare CNV feel toward research participation and their overall experience in rare disease research. There are clear targets for areas of improvement for study teams, although many stakeholders reported positive research experiences. Key findings from this international survey may help advance collaborative research and improve the experience of participants, investigators, and other stakeholders moving forward.</jats:p>
3Scopus© Citations 4
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Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS
(2023)
Yingjie Zhao
;
Yujue Wang
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Lijie Shi
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Donna M. McDonald-McGinn
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T. Blaine Crowley
<jats:title>Abstract</jats:title><jats:p>Congenital heart disease (CHD) affecting the conotruncal region of the heart, occurs in 40–50% of patients with 22q11.2 deletion syndrome (22q11.2DS). This syndrome is a rare disorder with relative genetic homogeneity that can facilitate identification of genetic modifiers. Haploinsufficiency of <jats:italic>TBX1</jats:italic>, encoding a T-box transcription factor, is one of the main genes responsible for the etiology of the syndrome. We suggest that genetic modifiers of conotruncal defects in patients with 22q11.2DS may be in the <jats:italic>TBX1</jats:italic> gene network. To identify genetic modifiers, we analyzed rare, predicted damaging variants in whole genome sequence of 456 cases with conotruncal defects and 537 controls, with 22q11.2DS. We then performed gene set approaches and identified chromatin regulatory genes as modifiers. Chromatin genes with recurrent damaging variants include <jats:italic>EP400</jats:italic>, <jats:italic>KAT6A</jats:italic>, <jats:italic>KMT2C</jats:italic>, <jats:italic>KMT2D</jats:italic>, <jats:italic>NSD1, CHD7</jats:italic> and <jats:italic>PHF21A</jats:italic>. In total, we identified 37 chromatin regulatory genes, that may increase risk for conotruncal heart defects in 8.5% of 22q11.2DS cases. Many of these genes were identified as risk factors for sporadic CHD in the general population. These genes are co-expressed in cardiac progenitor cells with <jats:italic>TBX1</jats:italic>, suggesting that they may be in the same genetic network. The genes <jats:italic>KAT6A</jats:italic>, <jats:italic>KMT2C</jats:italic>, <jats:italic>CHD7</jats:italic> and <jats:italic>EZH2</jats:italic>, have been previously shown to genetically interact with <jats:italic>TBX1</jats:italic> in mouse models. Our findings indicate that disturbance of chromatin regulatory genes impact the <jats:italic>TBX1</jats:italic> gene network serving as genetic modifiers of 22q11.2DS and sporadic CHD, suggesting that there are some shared mechanisms involving the <jats:italic>TBX1</jats:italic> gene network in the etiology of CHD.</jats:p>
Scopus© Citations 4 3
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Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome
(2023)
Erik Boot
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Sólveig Óskarsdóttir
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Joanne C.Y. Loo
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Terrence Blaine Crowley
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Ani Orchanian-Cheff
Scopus© Citations 76 2
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Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome
(2023)
Sólveig Óskarsdóttir
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Erik Boot
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Terrence Blaine Crowley
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Joanne C.Y. Loo
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Jill M. Arganbright
Scopus© Citations 50 2
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Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion
(2020)
Isabelle Cleynen
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Worrawat Engchuan
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Matthew S. Hestand
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Tracy Heung
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Aaron M. Holleman
Scopus© Citations 98 2
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Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome
(2020)
Robert W. Davies
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Ania M. Fiksinski
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Elemi J. Breetvelt
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Nigel M. Williams
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Stephen R. Hooper
8Scopus© Citations 101

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